| 8 | g.10612756A= | CA1763378971 | RP1L1 | c.1342T= (p.Cys448=)
| |
| 8 | g.10612756A>C | CA370295697 | RP1L1 | c.1342T>G (p.Cys448Gly)
| |
| 8 | g.10612756A>G | CA4625217 | RP1L1 | c.1342T>C (p.Cys448Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612756A>T | CA370295698 | RP1L1 | c.1342T>A (p.Cys448Ser)
| |
| 8 | g.10612757T>A | CA370295699 | RP1L1 | c.1341A>T (p.Arg447Ser)
| dbSNP gnomAD v4 |
| 8 | g.10612757T>C | CA171947757 | RP1L1 | c.1341A>G (p.Arg447=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612757T>G | CA370295700 | RP1L1 | c.1341A>C (p.Arg447Ser)
| |
| 8 | g.10612757T= | CA1763378974 | RP1L1 | c.1341A= (p.Arg447=)
| |
| 8 | g.10612758C>A | CA370295701 | RP1L1 | c.1340G>T (p.Arg447Ile)
| |
| 8 | g.10612758C= | CA1763378976 | RP1L1 | c.1340G= (p.Arg447=)
| |
| 8 | g.10612758C>G | CA10629878 | RP1L1 | c.1340G>C (p.Arg447Thr)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612758C>T | CA370295702 | RP1L1 | c.1340G>A (p.Arg447Lys)
| |
| 8 | g.10612759T>A | CA370295703 | RP1L1 | c.1339A>T (p.Arg447Ter)
| |
| 8 | g.10612759T>C | CA4625218 | RP1L1 | c.1339A>G (p.Arg447Gly)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612759T>G | CA459619826 | RP1L1 | c.1339A>C (p.Arg447=)
| |
| 8 | g.10612759T= | CA1763378978 | RP1L1 | c.1339A= (p.Arg447=)
| |
| 8 | g.10612760C>A | CA370295704 | RP1L1 | c.1338G>T (p.Glu446Asp)
| |
| 8 | g.10612760C>G | CA370295705 | RP1L1 | c.1338G>C (p.Glu446Asp)
| |
| 8 | g.10612760C>T | CA459619827 | RP1L1 | c.1338G>A (p.Glu446=)
| gnomAD v4 |
| 8 | g.10612761T>A | CA370295706 | RP1L1 | c.1337A>T (p.Glu446Val)
| |
| 8 | g.10612761T>C | CA370295707 | RP1L1 | c.1337A>G (p.Glu446Gly)
| |
| 8 | g.10612761T>G | CA370295708 | RP1L1 | c.1337A>C (p.Glu446Ala)
| |
| 8 | g.10612762C>A | CA370295709 | RP1L1 | c.1336G>T (p.Glu446Ter)
| |
| 8 | g.10612762C>G | CA370295710 | RP1L1 | c.1336G>C (p.Glu446Gln)
| |
| 8 | g.10612762C>T | CA370295711 | RP1L1 | c.1336G>A (p.Glu446Lys)
| gnomAD v4 COSMIC |
| 8 | g.10612763C>A | CA171947761 | RP1L1 | c.1335G>T (p.Arg445Ser)
| dbSNP |
| 8 | g.10612763C= | CA1763378980 | RP1L1 | c.1335G= (p.Arg445=)
| |
| 8 | g.10612763C>G | CA370295712 | RP1L1 | c.1335G>C (p.Arg445Ser)
| |
| 8 | g.10612763C>T | CA459619828 | RP1L1 | c.1335G>A (p.Arg445=)
| |
| 8 | g.10612764C>A | CA370295713 | RP1L1 | c.1334G>T (p.Arg445Met)
| |
| 8 | g.10612764C>G | CA370295714 | RP1L1 | c.1334G>C (p.Arg445Thr)
| |
| 8 | g.10612764C>T | CA370295715 | RP1L1 | c.1334G>A (p.Arg445Lys)
| |
| 8 | g.10612765T>A | CA370295717 | RP1L1 | c.1333A>T (p.Arg445Trp)
| |
| 8 | g.10612765T>C | CA370295716 | RP1L1 | c.1333A>G (p.Arg445Gly)
| |
| 8 | g.10612765T>G | CA459619829 | RP1L1 | c.1333A>C (p.Arg445=)
| |
| 8 | g.10612766C>A | CA4625219 | RP1L1 | c.1332G>T (p.Gly444=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612766C= | CA1763378982 | RP1L1 | c.1332G= (p.Gly444=)
| |
| 8 | g.10612766C>G | CA459619831 | RP1L1 | c.1332G>C (p.Gly444=)
| |
| 8 | g.10612766C>T | CA459619830 | RP1L1 | c.1332G>A (p.Gly444=)
| gnomAD v4 COSMIC |
| 8 | g.10612767C>A | CA370295720 | RP1L1 | c.1331G>T (p.Gly444Val)
| |
| 8 | g.10612767C= | CA1763378984 | RP1L1 | c.1331G= (p.Gly444=)
| |
| 8 | g.10612767C>G | CA370295718 | RP1L1 | c.1331G>C (p.Gly444Ala)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612767C>T | CA370295719 | RP1L1 | c.1331G>A (p.Gly444Glu)
| dbSNP |
| 8 | g.10612768C>A | CA370295721 | RP1L1 | c.1330G>T (p.Gly444Trp)
| COSMIC |
| 8 | g.10612768C= | CA1763378986 | RP1L1 | c.1330G= (p.Gly444=)
| |
| 8 | g.10612768C>G | CA370295722 | RP1L1 | c.1330G>C (p.Gly444Arg)
| |
| 8 | g.10612768C>T | CA4625220 | RP1L1 | c.1330G>A (p.Gly444Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612769G>A | CA4625221 | RP1L1 | c.1329C>T (p.Ala443=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612769G>C | CA459619832 | RP1L1 | c.1329C>G (p.Ala443=)
| dbSNP |
| 8 | g.10612769G= | CA1763378988 | RP1L1 | c.1329C= (p.Ala443=)
| |
| 8 | g.10612769G>T | CA459619833 | RP1L1 | c.1329C>A (p.Ala443=)
| gnomAD v4 |
| 8 | g.10612770G>A | CA370295723 | RP1L1 | c.1328C>T (p.Ala443Val)
| dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 8 | g.10612770G>C | CA4625222 | RP1L1 | c.1328C>G (p.Ala443Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612770G= | CA1763378990 | RP1L1 | c.1328C= (p.Ala443=)
| |
| 8 | g.10612770G>T | CA370295724 | RP1L1 | c.1328C>A (p.Ala443Asp)
| gnomAD v4 |
| 8 | g.10612771C>A | CA370295725 | RP1L1 | c.1327G>T (p.Ala443Ser)
| |
| 8 | g.10612771C= | CA1763378992 | RP1L1 | c.1327G= (p.Ala443=)
| |
| 8 | g.10612771C>G | CA370295726 | RP1L1 | c.1327G>C (p.Ala443Pro)
| |
| 8 | g.10612771C>T | CA370295727 | RP1L1 | c.1327G>A (p.Ala443Thr)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612772A>C | CA459619834 | RP1L1 | c.1326T>G (p.Thr442=)
| |
| 8 | g.10612772A>G | CA459619835 | RP1L1 | c.1326T>C (p.Thr442=)
| |
| 8 | g.10612772A>T | CA459619836 | RP1L1 | c.1326T>A (p.Thr442=)
| |
| 8 | g.10612773G>A | CA4625223 | RP1L1 | c.1325C>T (p.Thr442Ile)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612773G>C | CA370295729 | RP1L1 | c.1325C>G (p.Thr442Ser)
| |
| 8 | g.10612773G= | CA1763378995 | RP1L1 | c.1325C= (p.Thr442=)
| |
| 8 | g.10612773G>T | CA370295728 | RP1L1 | c.1325C>A (p.Thr442Asn)
| |
| 8 | g.10612774T>A | CA370295730 | RP1L1 | c.1324A>T (p.Thr442Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612774T>C | CA370295731 | RP1L1 | c.1324A>G (p.Thr442Ala)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612774T>G | CA171947768 | RP1L1 | c.1324A>C (p.Thr442Pro)
| dbSNP gnomAD v4 |
| 8 | g.10612774T= | CA1763378997 | RP1L1 | c.1324A= (p.Thr442=)
| |
| 8 | g.10612775C>A | CA459619837 | RP1L1 | c.1323G>T (p.Gly441=)
| |
| 8 | g.10612775C= | CA1763378999 | RP1L1 | c.1323G= (p.Gly441=)
| |
| 8 | g.10612775C>G | CA459619838 | RP1L1 | c.1323G>C (p.Gly441=)
| gnomAD v4 |
| 8 | g.10612775C>T | CA4625224 | RP1L1 | c.1323G>A (p.Gly441=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612776C>A | CA370295734 | RP1L1 | c.1322G>T (p.Gly441Val)
| |
| 8 | g.10612776C= | CA1763379001 | RP1L1 | c.1322G= (p.Gly441=)
| |
| 8 | g.10612776C>G | CA370295733 | RP1L1 | c.1322G>C (p.Gly441Ala)
| dbSNP |
| 8 | g.10612776C>T | CA370295732 | RP1L1 | c.1322G>A (p.Gly441Glu)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612777C>A | CA370295735 | RP1L1 | c.1321G>T (p.Gly441Trp)
| gnomAD v4 |
| 8 | g.10612777C= | CA1763379003 | RP1L1 | c.1321G= (p.Gly441=)
| |
| 8 | g.10612777C>G | CA370295736 | RP1L1 | c.1321G>C (p.Gly441Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612777C>T | CA4625225 | RP1L1 | c.1321G>A (p.Gly441Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612777_10612798del | CA2686113912 | RP1L1 | c.1300_1321del (p.Cys434GlyfsTer?)
| gnomAD v4 |
| 8 | g.10612778G>A | CA4625226 | RP1L1 | c.1320C>T (p.His440=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612778G>C | CA370295737 | RP1L1 | c.1320C>G (p.His440Gln)
| |
| 8 | g.10612778G= | CA1763379005 | RP1L1 | c.1320C= (p.His440=)
| |
| 8 | g.10612778G>T | CA370295738 | RP1L1 | c.1320C>A (p.His440Gln)
| |
| 8 | g.10612779T>A | CA370295740 | RP1L1 | c.1319A>T (p.His440Leu)
| |
| 8 | g.10612779T>C | CA370295739 | RP1L1 | c.1319A>G (p.His440Arg)
| gnomAD v4 |
| 8 | g.10612779T>G | CA171947772 | RP1L1 | c.1319A>C (p.His440Pro)
| dbSNP |
| 8 | g.10612779T= | CA1763379009 | RP1L1 | c.1319A= (p.His440=)
| |
| 8 | g.10612779_10612780delinsTG | CA1763379008 | RP1L1 | c.1318_1319delinsCA (p.His440=)
| |
| 8 | g.10612780G>A | CA370295741 | RP1L1 | c.1318C>T (p.His440Tyr)
| |
| 8 | g.10612780G>C | CA370295742 | RP1L1 | c.1318C>G (p.His440Asp)
| |
| 8 | g.10612780G>T | CA370295743 | RP1L1 | c.1318C>A (p.His440Asn)
| gnomAD v4 |
| 8 | g.10612781del | CA4625227 | RP1L1 | c.1318del (p.His440ThrfsTer?)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612781G>A | CA459619839 | RP1L1 | c.1317C>T (p.Gly439=)
| dbSNP gnomAD v4 |
| 8 | g.10612781G>C | CA459619840 | RP1L1 | c.1317C>G (p.Gly439=)
| |
| 8 | g.10612781G= | CA1763379013 | RP1L1 | c.1317C= (p.Gly439=)
| |
| 8 | g.10612781G>T | CA4625228 | RP1L1 | c.1317C>A (p.Gly439=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612783_10612797del | CA2686113920 | RP1L1 | c.1303_1317del (p.Ser435_Gly439del)
| gnomAD v4 |
| 8 | g.10612782C>A | CA370295746 | RP1L1 | c.1316G>T (p.Gly439Val)
| |
| 8 | g.10612782C= | CA1763379015 | RP1L1 | c.1316G= (p.Gly439=)
| |
| 8 | g.10612782C>G | CA370295745 | RP1L1 | c.1316G>C (p.Gly439Ala)
| |
| 8 | g.10612782C>T | CA370295744 | RP1L1 | c.1316G>A (p.Gly439Asp)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612785del | CA2686113921 | RP1L1 | c.1316del (p.Gly439AlafsTer?)
| gnomAD v4 |
| 8 | g.10612783C>A | CA370295747 | RP1L1 | c.1315G>T (p.Gly439Cys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612783C= | CA1763379017 | RP1L1 | c.1315G= (p.Gly439=)
| |
| 8 | g.10612783C>G | CA4625229 | RP1L1 | c.1315G>C (p.Gly439Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612783C>T | CA370295748 | RP1L1 | c.1315G>A (p.Gly439Ser)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612784C>A | CA370295749 | RP1L1 | c.1314G>T (p.Trp438Cys)
| |
| 8 | g.10612784C>G | CA370295750 | RP1L1 | c.1314G>C (p.Trp438Cys)
| |
| 8 | g.10612784C>T | CA370295751 | RP1L1 | c.1314G>A (p.Trp438Ter)
| |
| 8 | g.10612785C>A | CA370295752 | RP1L1 | c.1313G>T (p.Trp438Leu)
| |
| 8 | g.10612785C>G | CA370295754 | RP1L1 | c.1313G>C (p.Trp438Ser)
| gnomAD v4 |
| 8 | g.10612785C>T | CA370295753 | RP1L1 | c.1313G>A (p.Trp438Ter)
| |
| 8 | g.10612786A>C | CA370295755 | RP1L1 | c.1312T>G (p.Trp438Gly)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612786A>G | CA370295756 | RP1L1 | c.1312T>C (p.Trp438Arg)
| gnomAD v4 |
| 8 | g.10612786A>T | CA370295757 | RP1L1 | c.1312T>A (p.Trp438Arg)
| |
| 8 | g.10612787C>A | CA459619841 | RP1L1 | c.1311G>T (p.Leu437=)
| gnomAD v4 |
| 8 | g.10612787C>G | CA459619842 | RP1L1 | c.1311G>C (p.Leu437=)
| |
| 8 | g.10612787C>T | CA459619843 | RP1L1 | c.1311G>A (p.Leu437=)
| gnomAD v4 |
| 8 | g.10612788A= | CA1763379019 | RP1L1 | c.1310T= (p.Leu437=)
| |
| 8 | g.10612788A>C | CA370295758 | RP1L1 | c.1310T>G (p.Leu437Arg)
| |
| 8 | g.10612788A>G | CA370295759 | RP1L1 | c.1310T>C (p.Leu437Pro)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612788A>T | CA370295760 | RP1L1 | c.1310T>A (p.Leu437Gln)
| |
| 8 | g.10612789G>A | CA171947775 | RP1L1 | c.1309C>T (p.Leu437=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612789G>C | CA370295761 | RP1L1 | c.1309C>G (p.Leu437Val)
| |
| 8 | g.10612789G= | CA1763379022 | RP1L1 | c.1309C= (p.Leu437=)
| |
| 8 | g.10612789G>T | CA370295762 | RP1L1 | c.1309C>A (p.Leu437Met)
| gnomAD v4 |
| 8 | g.10612790G>A | CA171947777 | RP1L1 | c.1308C>T (p.Gly436=)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612790G>C | CA459619844 | RP1L1 | c.1308C>G (p.Gly436=)
| gnomAD v4 |
| 8 | g.10612790G= | CA1763379024 | RP1L1 | c.1308C= (p.Gly436=)
| |
| 8 | g.10612790G>T | CA459619845 | RP1L1 | c.1308C>A (p.Gly436=)
| gnomAD v4 |
| 8 | g.10612791C>A | CA370295763 | RP1L1 | c.1307G>T (p.Gly436Val)
| gnomAD v4 |
| 8 | g.10612791C>G | CA370295764 | RP1L1 | c.1307G>C (p.Gly436Ala)
| |
| 8 | g.10612791C>T | CA370295765 | RP1L1 | c.1307G>A (p.Gly436Asp)
| |
| 8 | g.10612792C>A | CA370295768 | RP1L1 | c.1306G>T (p.Gly436Cys)
| gnomAD v4 |
| 8 | g.10612792C= | CA1763379026 | RP1L1 | c.1306G= (p.Gly436=)
| |
| 8 | g.10612792C>G | CA370295767 | RP1L1 | c.1306G>C (p.Gly436Arg)
| gnomAD v4 |
| 8 | g.10612792C>T | CA370295766 | RP1L1 | c.1306G>A (p.Gly436Ser)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612793A= | CA1763379028 | RP1L1 | c.1305T= (p.Ser435=)
| |
| 8 | g.10612793A>C | CA4625230 | RP1L1 | c.1305T>G (p.Ser435Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612793A>G | CA459619846 | RP1L1 | c.1305T>C (p.Ser435=)
| COSMIC |
| 8 | g.10612793A>T | CA370295769 | RP1L1 | c.1305T>A (p.Ser435Arg)
| |
| 8 | g.10612794C>A | CA370295770 | RP1L1 | c.1304G>T (p.Ser435Ile)
| |
| 8 | g.10612794C>G | CA370295771 | RP1L1 | c.1304G>C (p.Ser435Thr)
| |
| 8 | g.10612794C>T | CA370295772 | RP1L1 | c.1304G>A (p.Ser435Asn)
| |
| 8 | g.10612795T>A | CA370295773 | RP1L1 | c.1303A>T (p.Ser435Cys)
| |
| 8 | g.10612795T>C | CA4625231 | RP1L1 | c.1303A>G (p.Ser435Gly)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612795T>G | CA370295774 | RP1L1 | c.1303A>C (p.Ser435Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612795T= | CA1763379030 | RP1L1 | c.1303A= (p.Ser435=)
| |
| 8 | g.10612796G>A | CA459619916 | RP1L1 | c.1302C>T (p.Cys434=)
| gnomAD v4 |
| 8 | g.10612796G>C | CA370295775 | RP1L1 | c.1302C>G (p.Cys434Trp)
| |
| 8 | g.10612796G>T | CA370295776 | RP1L1 | c.1302C>A (p.Cys434Ter)
| gnomAD v4 |
| 8 | g.10612797C>A | CA370295777 | RP1L1 | c.1301G>T (p.Cys434Phe)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612797C= | CA1763379031 | RP1L1 | c.1301G= (p.Cys434=)
| |
| 8 | g.10612797C>G | CA370295778 | RP1L1 | c.1301G>C (p.Cys434Ser)
| |
| 8 | g.10612797C>T | CA370295779 | RP1L1 | c.1301G>A (p.Cys434Tyr)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612798A= | CA1763379033 | RP1L1 | c.1300T= (p.Cys434=)
| |
| 8 | g.10612798A>C | CA370295780 | RP1L1 | c.1300T>G (p.Cys434Gly)
| |
| 8 | g.10612798A>G | CA370295781 | RP1L1 | c.1300T>C (p.Cys434Arg)
| |
| 8 | g.10612798A>T | CA370295782 | RP1L1 | c.1300T>A (p.Cys434Ser)
| dbSNP |
| 8 | g.10612799G>A | CA4625232 | RP1L1 | c.1299C>T (p.Arg433=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612799G>C | CA459619920 | RP1L1 | c.1299C>G (p.Arg433=)
| |
| 8 | g.10612799G= | CA1763379035 | RP1L1 | c.1299C= (p.Arg433=)
| |
| 8 | g.10612799G>T | CA459619919 | RP1L1 | c.1299C>A (p.Arg433=)
| |
| 8 | g.10612800C>A | CA370295784 | RP1L1 | c.1298G>T (p.Arg433Leu)
| dbSNP gnomAD v4 |
| 8 | g.10612800C= | CA1763379037 | RP1L1 | c.1298G= (p.Arg433=)
| |
| 8 | g.10612800C>G | CA370295783 | RP1L1 | c.1298G>C (p.Arg433Pro)
| |
| 8 | g.10612800C>T | CA4625233 | RP1L1 | c.1298G>A (p.Arg433His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612801G>A | CA4625234 | RP1L1 | c.1297C>T (p.Arg433Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612801G>C | CA370295785 | RP1L1 | c.1297C>G (p.Arg433Gly)
| |
| 8 | g.10612801G= | CA1763379039 | RP1L1 | c.1297C= (p.Arg433=)
| |
| 8 | g.10612801G>T | CA370295786 | RP1L1 | c.1297C>A (p.Arg433Ser)
| gnomAD v4 |
| 8 | g.10612802G>A | CA459619931 | RP1L1 | c.1296C>T (p.Val432=)
| gnomAD v4 |
| 8 | g.10612802G>C | CA459619929 | RP1L1 | c.1296C>G (p.Val432=)
| COSMIC |
| 8 | g.10612802G>T | CA459619930 | RP1L1 | c.1296C>A (p.Val432=)
| |
| 8 | g.10612803A>C | CA370295789 | RP1L1 | c.1295T>G (p.Val432Gly)
| |
| 8 | g.10612803A>G | CA370295788 | RP1L1 | c.1295T>C (p.Val432Ala)
| gnomAD v4 |
| 8 | g.10612803A>T | CA370295787 | RP1L1 | c.1295T>A (p.Val432Asp)
| |
| 8 | g.10612804C>A | CA370295790 | RP1L1 | c.1294G>T (p.Val432Phe)
| |
| 8 | g.10612804C= | CA1763379042 | RP1L1 | c.1294G= (p.Val432=)
| |
| 8 | g.10612804C>G | CA171947784 | RP1L1 | c.1294G>C (p.Val432Leu)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612804C>T | CA4625235 | RP1L1 | c.1294G>A (p.Val432Ile)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612805G>A | CA4625236 | RP1L1 | c.1293C>T (p.His431=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612805G>C | CA370295791 | RP1L1 | c.1293C>G (p.His431Gln)
| |
| 8 | g.10612805G= | CA1763379044 | RP1L1 | c.1293C= (p.His431=)
| |
| 8 | g.10612805G>T | CA370295792 | RP1L1 | c.1293C>A (p.His431Gln)
| gnomAD v4 |
| 8 | g.10612806T>A | CA370295793 | RP1L1 | c.1292A>T (p.His431Leu)
| |
| 8 | g.10612806T>C | CA370295795 | RP1L1 | c.1292A>G (p.His431Arg)
| |
| 8 | g.10612806T>G | CA370295794 | RP1L1 | c.1292A>C (p.His431Pro)
| |
| 8 | g.10612806T= | CA1763379046 | RP1L1 | c.1292A= (p.His431=)
| |
| 8 | g.10612807G>A | CA370295796 | RP1L1 | c.1291C>T (p.His431Tyr)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612807G>C | CA370295797 | RP1L1 | c.1291C>G (p.His431Asp)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612807G= | CA1763379048 | RP1L1 | c.1291C= (p.His431=)
| |
| 8 | g.10612807G>T | CA370295798 | RP1L1 | c.1291C>A (p.His431Asn)
| |
| 8 | g.10612811_10612836dup | CA580030540 | RP1L1 | c.1266_1291dup (p.His431LeufsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612808C>A | CA4625237 | RP1L1 | c.1290G>T (p.Gln430His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612808C= | CA1763379051 | RP1L1 | c.1290G= (p.Gln430=)
| |
| 8 | g.10612808C>G | CA370295799 | RP1L1 | c.1290G>C (p.Gln430His)
| dbSNP |
| 8 | g.10612808C>T | CA459619943 | RP1L1 | c.1290G>A (p.Gln430=)
| gnomAD v4 |
| 8 | g.10612809T>A | CA370295802 | RP1L1 | c.1289A>T (p.Gln430Leu)
| |
| 8 | g.10612809T>C | CA370295801 | RP1L1 | c.1289A>G (p.Gln430Arg)
| |
| 8 | g.10612809T>G | CA370295800 | RP1L1 | c.1289A>C (p.Gln430Pro)
| |
| 8 | g.10612810G>A | CA370295803 | RP1L1 | c.1288C>T (p.Gln430Ter)
| ClinVar dbSNP gnomAD v4 |
| 8 | g.10612810G>C | CA370295804 | RP1L1 | c.1288C>G (p.Gln430Glu)
| |
| 8 | g.10612810G>T | CA370295805 | RP1L1 | c.1288C>A (p.Gln430Lys)
| |
| 8 | g.10612811G>A | CA459619947 | RP1L1 | c.1287C>T (p.Ala429=)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612811G>C | CA459619948 | RP1L1 | c.1287C>G (p.Ala429=)
| gnomAD v4 |
| 8 | g.10612811G= | CA1763379054 | RP1L1 | c.1287C= (p.Ala429=)
| |
| 8 | g.10612811G>T | CA459619949 | RP1L1 | c.1287C>A (p.Ala429=)
| gnomAD v4 |
| 8 | g.10612812G>A | CA370295806 | RP1L1 | c.1286C>T (p.Ala429Val)
| dbSNP |
| 8 | g.10612812G>C | CA370295807 | RP1L1 | c.1286C>G (p.Ala429Gly)
| |
| 8 | g.10612812G= | CA1763379056 | RP1L1 | c.1286C= (p.Ala429=)
| |
| 8 | g.10612812G>T | CA4625238 | RP1L1 | c.1286C>A (p.Ala429Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612813C>A | CA370295808 | RP1L1 | c.1285G>T (p.Ala429Ser)
| gnomAD v4 |
| 8 | g.10612813C>G | CA370295810 | RP1L1 | c.1285G>C (p.Ala429Pro)
| |
| 8 | g.10612813C>T | CA370295809 | RP1L1 | c.1285G>A (p.Ala429Thr)
| gnomAD v4 COSMIC |
| 8 | g.10612814C>A | CA459619954 | RP1L1 | c.1284G>T (p.Leu428=)
| |
| 8 | g.10612814C= | CA1763379058 | RP1L1 | c.1284G= (p.Leu428=)
| |
| 8 | g.10612814C>G | CA459619955 | RP1L1 | c.1284G>C (p.Leu428=)
| |
| 8 | g.10612814C>T | CA459619956 | RP1L1 | c.1284G>A (p.Leu428=)
| dbSNP gnomAD v2 |
| 8 | g.10612815A>C | CA370295811 | RP1L1 | c.1283T>G (p.Leu428Arg)
| |
| 8 | g.10612815A>G | CA370295812 | RP1L1 | c.1283T>C (p.Leu428Pro)
| |
| 8 | g.10612815A>T | CA370295813 | RP1L1 | c.1283T>A (p.Leu428Gln)
| |
| 8 | g.10612816G>A | CA459619958 | RP1L1 | c.1282C>T (p.Leu428=)
| dbSNP gnomAD v4 |
| 8 | g.10612816G>C | CA370295814 | RP1L1 | c.1282C>G (p.Leu428Val)
| gnomAD v4 |
| 8 | g.10612816G= | CA1763379059 | RP1L1 | c.1282C= (p.Leu428=)
| |
| 8 | g.10612816G>T | CA370295815 | RP1L1 | c.1282C>A (p.Leu428Met)
| gnomAD v4 |
| 8 | g.10612817T>A | CA459619962 | RP1L1 | c.1281A>T (p.Gly427=)
| gnomAD v4 |
| 8 | g.10612817T>C | CA459619963 | RP1L1 | c.1281A>G (p.Gly427=)
| |
| 8 | g.10612817T>G | CA459619961 | RP1L1 | c.1281A>C (p.Gly427=)
| |
| 8 | g.10612818C>A | CA370295816 | RP1L1 | c.1280G>T (p.Gly427Val)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612818C= | CA1763379061 | RP1L1 | c.1280G= (p.Gly427=)
| |
| 8 | g.10612818C>G | CA370295817 | RP1L1 | c.1280G>C (p.Gly427Ala)
| |
| 8 | g.10612818C>T | CA370295818 | RP1L1 | c.1280G>A (p.Gly427Glu)
| |
| 8 | g.10612819C>A | CA370295819 | RP1L1 | c.1279G>T (p.Gly427Ter)
| |
| 8 | g.10612819C>G | CA370295820 | RP1L1 | c.1279G>C (p.Gly427Arg)
| |
| 8 | g.10612819C>T | CA370295821 | RP1L1 | c.1279G>A (p.Gly427Arg)
| gnomAD v4 |
| 8 | g.10612820C>A | CA370295822 | RP1L1 | c.1278G>T (p.Trp426Cys)
| |
| 8 | g.10612820C= | CA1763379062 | RP1L1 | c.1278G= (p.Trp426=)
| |
| 8 | g.10612820C>G | CA370295824 | RP1L1 | c.1278G>C (p.Trp426Cys)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612820C>T | CA370295823 | RP1L1 | c.1278G>A (p.Trp426Ter)
| COSMIC |
| 8 | g.10612821C>A | CA370295825 | RP1L1 | c.1277G>T (p.Trp426Leu)
| |
| 8 | g.10612821C>G | CA370295826 | RP1L1 | c.1277G>C (p.Trp426Ser)
| gnomAD v4 |
| 8 | g.10612821C>T | CA370295827 | RP1L1 | c.1277G>A (p.Trp426Ter)
| |
| 8 | g.10612822A>C | CA370295828 | RP1L1 | c.1276T>G (p.Trp426Gly)
| gnomAD v4 |
| 8 | g.10612822A>G | CA370295829 | RP1L1 | c.1276T>C (p.Trp426Arg)
| |
| 8 | g.10612822A>T | CA370295830 | RP1L1 | c.1276T>A (p.Trp426Arg)
| |
| 8 | g.10612823C>A | CA4625239 | RP1L1 | c.1275G>T (p.Arg425Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612823C= | CA1763379064 | RP1L1 | c.1275G= (p.Arg425=)
| |
| 8 | g.10612823C>G | CA370295831 | RP1L1 | c.1275G>C (p.Arg425Ser)
| |
| 8 | g.10612823C>T | CA459619969 | RP1L1 | c.1275G>A (p.Arg425=)
| |
| 8 | g.10612824C>A | CA370295832 | RP1L1 | c.1274G>T (p.Arg425Met)
| |
| 8 | g.10612824C= | CA1763379066 | RP1L1 | c.1274G= (p.Arg425=)
| |
| 8 | g.10612824C>G | CA370295833 | RP1L1 | c.1274G>C (p.Arg425Thr)
| dbSNP gnomAD v4 |
| 8 | g.10612824C>T | CA370295834 | RP1L1 | c.1274G>A (p.Arg425Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612825T>A | CA370295835 | RP1L1 | c.1273A>T (p.Arg425Trp)
| gnomAD v4 |
| 8 | g.10612825T>C | CA370295836 | RP1L1 | c.1273A>G (p.Arg425Gly)
| |
| 8 | g.10612825T>G | CA4625240 | RP1L1 | c.1273A>C (p.Arg425=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612825T= | CA1763379069 | RP1L1 | c.1273A= (p.Arg425=)
| |
| 8 | g.10612826C>A | CA370295838 | RP1L1 | c.1272G>T (p.Lys424Asn)
| gnomAD v4 |
| 8 | g.10612826C= | CA1763379071 | RP1L1 | c.1272G= (p.Lys424=)
| |
| 8 | g.10612826C>G | CA370295837 | RP1L1 | c.1272G>C (p.Lys424Asn)
| dbSNP |
| 8 | g.10612826C>T | CA459619978 | RP1L1 | c.1272G>A (p.Lys424=)
| |
| 8 | g.10612827T>A | CA370295839 | RP1L1 | c.1271A>T (p.Lys424Met)
| |
| 8 | g.10612827T>C | CA4625241 | RP1L1 | c.1271A>G (p.Lys424Arg)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612827T>G | CA370295840 | RP1L1 | c.1271A>C (p.Lys424Thr)
| |
| 8 | g.10612827T= | CA1763379073 | RP1L1 | c.1271A= (p.Lys424=)
| |
| 8 | g.10612828T>A | CA4625242 | RP1L1 | c.1270A>T (p.Lys424Ter)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612828T>C | CA370295841 | RP1L1 | c.1270A>G (p.Lys424Glu)
| |
| 8 | g.10612828T>G | CA370295842 | RP1L1 | c.1270A>C (p.Lys424Gln)
| |
| 8 | g.10612828T= | CA1763379075 | RP1L1 | c.1270A= (p.Lys424=)
| |
| 8 | g.10612829C>A | CA459619984 | RP1L1 | c.1269G>T (p.Arg423=)
| COSMIC |
| 8 | g.10612829C= | CA1763379077 | RP1L1 | c.1269G= (p.Arg423=)
| |
| 8 | g.10612829C>G | CA459619985 | RP1L1 | c.1269G>C (p.Arg423=)
| |
| 8 | g.10612829C>T | CA459619986 | RP1L1 | c.1269G>A (p.Arg423=)
| dbSNP gnomAD v4 |
| 8 | g.10612830C>A | CA370295843 | RP1L1 | c.1268G>T (p.Arg423Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612830C= | CA1763379080 | RP1L1 | c.1268G= (p.Arg423=)
| |
| 8 | g.10612830C>G | CA4625244 | RP1L1 | c.1268G>C (p.Arg423Pro)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612830C>T | CA4625243 | RP1L1 | c.1268G>A (p.Arg423Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612831G>A | CA4625245 | RP1L1 | c.1267C>T (p.Arg423Trp)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612831G>C | CA370295844 | RP1L1 | c.1267C>G (p.Arg423Gly)
| |
| 8 | g.10612831G= | CA1763379084 | RP1L1 | c.1267C= (p.Arg423=)
| |
| 8 | g.10612831G>T | CA459619988 | RP1L1 | c.1267C>A (p.Arg423=)
| |
| 8 | g.10612832A>C | CA459619992 | RP1L1 | c.1266T>G (p.Ala422=)
| |
| 8 | g.10612832A>G | CA459619994 | RP1L1 | c.1266T>C (p.Ala422=)
| |
| 8 | g.10612832A>T | CA459619995 | RP1L1 | c.1266T>A (p.Ala422=)
| |
| 8 | g.10612833G>A | CA370295845 | RP1L1 | c.1265C>T (p.Ala422Val)
| dbSNP gnomAD v4 |
| 8 | g.10612833G>C | CA370295846 | RP1L1 | c.1265C>G (p.Ala422Gly)
| |
| 8 | g.10612833G= | CA1763379085 | RP1L1 | c.1265C= (p.Ala422=)
| |
| 8 | g.10612833G>T | CA370295847 | RP1L1 | c.1265C>A (p.Ala422Asp)
| gnomAD v4 |
| 8 | g.10612834C>A | CA370295848 | RP1L1 | c.1264G>T (p.Ala422Ser)
| |
| 8 | g.10612834C>G | CA370295850 | RP1L1 | c.1264G>C (p.Ala422Pro)
| |
| 8 | g.10612834C>T | CA370295849 | RP1L1 | c.1264G>A (p.Ala422Thr)
| |
| 8 | g.10612835T>A | CA459619998 | RP1L1 | c.1263A>T (p.Ala421=)
| |
| 8 | g.10612835T>C | CA459620000 | RP1L1 | c.1263A>G (p.Ala421=)
| |
| 8 | g.10612835T>G | CA459620002 | RP1L1 | c.1263A>C (p.Ala421=)
| |
| 8 | g.10612836G>A | CA370295851 | RP1L1 | c.1262C>T (p.Ala421Val)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612836G>C | CA370295852 | RP1L1 | c.1262C>G (p.Ala421Gly)
| |
| 8 | g.10612836G= | CA1763379087 | RP1L1 | c.1262C= (p.Ala421=)
| |
| 8 | g.10612836G>T | CA370295853 | RP1L1 | c.1262C>A (p.Ala421Glu)
| gnomAD v4 |
| 8 | g.10612837C>A | CA370295854 | RP1L1 | c.1261G>T (p.Ala421Ser)
| gnomAD v4 |
| 8 | g.10612837C= | CA1763379090 | RP1L1 | c.1261G= (p.Ala421=)
| |
| 8 | g.10612837C>G | CA370295855 | RP1L1 | c.1261G>C (p.Ala421Pro)
| |
| 8 | g.10612837C>T | CA370295856 | RP1L1 | c.1261G>A (p.Ala421Thr)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612837_10612839delinsCCA | CA1763379089 | RP1L1 | c.1259_1261delinsTGG (p.Val420=)
| |
| 8 | g.10612838C>A | CA459620008 | RP1L1 | c.1260G>T (p.Val420=)
| |
| 8 | g.10612838C= | CA1763379092 | RP1L1 | c.1260G= (p.Val420=)
| |
| 8 | g.10612838C>G | CA459620009 | RP1L1 | c.1260G>C (p.Val420=)
| |
| 8 | g.10612838C>T | CA459620010 | RP1L1 | c.1260G>A (p.Val420=)
| dbSNP gnomAD v4 |
| 8 | g.10612839_10612840del | CA845125713 | RP1L1 | c.1259_1260del (p.Val420GlyfsTer?)
| dbSNP gnomAD v4 |
| 8 | g.10612839A>C | CA370295857 | RP1L1 | c.1259T>G (p.Val420Gly)
| |
| 8 | g.10612839A>G | CA370295858 | RP1L1 | c.1259T>C (p.Val420Ala)
| |
| 8 | g.10612839A>T | CA370295859 | RP1L1 | c.1259T>A (p.Val420Glu)
| gnomAD v4 |
| 8 | g.10612839_10612841delinsACT | CA1763379094 | RP1L1 | c.1257_1259delinsAGT (p.Arg419=)
| |
| 8 | g.10612840C>A | CA370295860 | RP1L1 | c.1258G>T (p.Val420Leu)
| |
| 8 | g.10612840C= | CA1763379099 | RP1L1 | c.1258G= (p.Val420=)
| |
| 8 | g.10612840C>G | CA370295861 | RP1L1 | c.1258G>C (p.Val420Leu)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612840C>T | CA370295862 | RP1L1 | c.1258G>A (p.Val420Met)
| gnomAD v4 |
| 8 | g.10612847_10612848dup | CA4625246 | RP1L1 | c.1257_1258dup (p.Val420GlufsTer?)
| ClinVar dbSNP ExAC gnomAD v2 |
| 8 | g.10612847_10612848del | CA645559067 | RP1L1 | c.1257_1258del (p.Arg419SerfsTer?)
| dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 8 | g.10612841T>A | CA370295863 | RP1L1 | c.1257A>T (p.Arg419Ser)
| |
| 8 | g.10612841T>C | CA459620017 | RP1L1 | c.1257A>G (p.Arg419=)
| dbSNP gnomAD v4 |
| 8 | g.10612841T>G | CA370295864 | RP1L1 | c.1257A>C (p.Arg419Ser)
| |
| 8 | g.10612841T= | CA1763379101 | RP1L1 | c.1257A= (p.Arg419=)
| |
| 8 | g.10612842C>A | CA370295865 | RP1L1 | c.1256G>T (p.Arg419Ile)
| gnomAD v4 |
| 8 | g.10612842C= | CA1763379103 | RP1L1 | c.1256G= (p.Arg419=)
| |
| 8 | g.10612842C>G | CA370295866 | RP1L1 | c.1256G>C (p.Arg419Thr)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612842C>T | CA370295867 | RP1L1 | c.1256G>A (p.Arg419Lys)
| gnomAD v4 |
| 8 | g.10612843T>A | CA370295868 | RP1L1 | c.1255A>T (p.Arg419Ter)
| |
| 8 | g.10612843T>C | CA370295869 | RP1L1 | c.1255A>G (p.Arg419Gly)
| gnomAD v4 |
| 8 | g.10612843T>G | CA459620022 | RP1L1 | c.1255A>C (p.Arg419=)
| |
| 8 | g.10612844C>A | CA370295870 | RP1L1 | c.1254G>T (p.Glu418Asp)
| |
| 8 | g.10612844C= | CA1763379104 | RP1L1 | c.1254G= (p.Glu418=)
| |
| 8 | g.10612844C>G | CA370295871 | RP1L1 | c.1254G>C (p.Glu418Asp)
| gnomAD v4 |
| 8 | g.10612844C>T | CA4625247 | RP1L1 | c.1254G>A (p.Glu418=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612845T>A | CA370295872 | RP1L1 | c.1253A>T (p.Glu418Val)
| |
| 8 | g.10612845T>C | CA370295873 | RP1L1 | c.1253A>G (p.Glu418Gly)
| |
| 8 | g.10612845T>G | CA370295874 | RP1L1 | c.1253A>C (p.Glu418Ala)
| |
| 8 | g.10612846C>A | CA370295877 | RP1L1 | c.1252G>T (p.Glu418Ter)
| |
| 8 | g.10612846C= | CA1763379106 | RP1L1 | c.1252G= (p.Glu418=)
| |
| 8 | g.10612846C>G | CA370295876 | RP1L1 | c.1252G>C (p.Glu418Gln)
| |
| 8 | g.10612846C>T | CA370295875 | RP1L1 | c.1252G>A (p.Glu418Lys)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612847T>A | CA4625248 | RP1L1 | c.1251A>T (p.Gly417=)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612847T>C | CA459620026 | RP1L1 | c.1251A>G (p.Gly417=)
| |
| 8 | g.10612847T>G | CA459620029 | RP1L1 | c.1251A>C (p.Gly417=)
| |
| 8 | g.10612847T= | CA1763379108 | RP1L1 | c.1251A= (p.Gly417=)
| |
| 8 | g.10612848C>A | CA4625249 | RP1L1 | c.1250G>T (p.Gly417Val)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
| 8 | g.10612848C= | CA1763379110 | RP1L1 | c.1250G= (p.Gly417=)
| |
| 8 | g.10612848C>G | CA370295878 | RP1L1 | c.1250G>C (p.Gly417Ala)
| gnomAD v4 |
| 8 | g.10612848C>T | CA370295879 | RP1L1 | c.1250G>A (p.Gly417Glu)
| |
| 8 | g.10612849C>A | CA370295880 | RP1L1 | c.1249G>T (p.Gly417Ter)
| |
| 8 | g.10612849C= | CA1763379112 | RP1L1 | c.1249G= (p.Gly417=)
| |
| 8 | g.10612849C>G | CA370295881 | RP1L1 | c.1249G>C (p.Gly417Arg)
| |
| 8 | g.10612849C>T | CA4625250 | RP1L1 | c.1249G>A (p.Gly417Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612850C>A | CA370295882 | RP1L1 | c.1248G>T (p.Gln416His)
| |
| 8 | g.10612850C= | CA1763379114 | RP1L1 | c.1248G= (p.Gln416=)
| |
| 8 | g.10612850C>G | CA370295883 | RP1L1 | c.1248G>C (p.Gln416His)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612850C>T | CA459620038 | RP1L1 | c.1248G>A (p.Gln416=)
| gnomAD v4 |
| 8 | g.10612851T>A | CA370295884 | RP1L1 | c.1247A>T (p.Gln416Leu)
| |
| 8 | g.10612851T>C | CA370295885 | RP1L1 | c.1247A>G (p.Gln416Arg)
| dbSNP gnomAD v3 gnomAD v4 |
| 8 | g.10612851T>G | CA370295886 | RP1L1 | c.1247A>C (p.Gln416Pro)
| |
| 8 | g.10612851T= | CA1763379116 | RP1L1 | c.1247A= (p.Gln416=)
| |
| 8 | g.10612852G>A | CA370295887 | RP1L1 | c.1246C>T (p.Gln416Ter)
| dbSNP gnomAD v2 gnomAD v4 |
| 8 | g.10612852G>C | CA370295888 | RP1L1 | c.1246C>G (p.Gln416Glu)
| |
| 8 | g.10612852G= | CA1763379118 | RP1L1 | c.1246C= (p.Gln416=)
| |
| 8 | g.10612852G>T | CA370295889 | RP1L1 | c.1246C>A (p.Gln416Lys)
| gnomAD v4 |
| 8 | g.10612853G>A | CA459620043 | RP1L1 | c.1245C>T (p.Ser415=)
| gnomAD v4 |
| 8 | g.10612853G>C | CA459620044 | RP1L1 | c.1245C>G (p.Ser415=)
| |
| 8 | g.10612853G>T | CA459620046 | RP1L1 | c.1245C>A (p.Ser415=)
| gnomAD v4 |
| 8 | g.10612854G>A | CA370295891 | RP1L1 | c.1244C>T (p.Ser415Phe)
| dbSNP gnomAD v4 |
| 8 | g.10612854G>C | CA4625251 | RP1L1 | c.1244C>G (p.Ser415Cys)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612854G= | CA1763379119 | RP1L1 | c.1244C= (p.Ser415=)
| |
| 8 | g.10612854G>T | CA370295890 | RP1L1 | c.1244C>A (p.Ser415Tyr)
| |
| 8 | g.10612855A= | CA1763379121 | RP1L1 | c.1243T= (p.Ser415=)
| |
| 8 | g.10612855A>C | CA370295892 | RP1L1 | c.1243T>G (p.Ser415Ala)
| dbSNP |
| 8 | g.10612855A>G | CA370295893 | RP1L1 | c.1243T>C (p.Ser415Pro)
| |
| 8 | g.10612855A>T | CA370295894 | RP1L1 | c.1243T>A (p.Ser415Thr)
| |
| 8 | g.10612856G>A | CA4625252 | RP1L1 | c.1242C>T (p.Ala414=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 8 | g.10612856G>C | CA171947806 | RP1L1 | c.1242C>G (p.Ala414=)
| dbSNP |
| 8 | g.10612856G= | CA1763379123 | RP1L1 | c.1242C= (p.Ala414=)
| |
| 8 | g.10612856G>T | CA459620053 | RP1L1 | c.1242C>A (p.Ala414=)
| |
